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CASE REPORT
Year : 2008  |  Volume : 26  |  Issue : 5  |  Page : 19-22
 

Ellis-van Creveld syndrome: A case report


Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere - 577 004, Karnataka, India

Correspondence Address:
B Shah
Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere - 577 004, Karnataka,
India
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Source of Support: None, Conflict of Interest: None


PMID: 18974540

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   Abstract 

Ellis-van Creveld syndrome (EvC) is a disease complex, where all the three embryonic layers appear to be involved. This disorder is also called as Chondroectodermal dysplasia. EvC is an autosomal recessive disorder resulting from mutations in these patients. Mutations in the two genes EVC and EVC2, have been identified to cause the condition. It has been considered as a skeletal dysplasia with an incidence of approximately 1 out of 1,50,000 live births. A high prevalence has been reported among certain populations like Amish and Arabs of Gaza strip. There are more than 300 cases of EvC reported into the literature. About 50-60% of cases have been reported with congenital cardiac malformations.


Keywords: Ellis-van Creveld syndrome, enamel hypoplasia, polydactyly


How to cite this article:
Shah B, Ashok L, Sujatha G P. Ellis-van Creveld syndrome: A case report. J Indian Soc Pedod Prev Dent 2008;26, Suppl S1:19-22

How to cite this URL:
Shah B, Ashok L, Sujatha G P. Ellis-van Creveld syndrome: A case report. J Indian Soc Pedod Prev Dent [serial online] 2008 [cited 2019 Jul 17];26, Suppl S1:19-22. Available from: http://www.jisppd.com/text.asp?2008/26/5/19/41749



   Introduction Top


 Ellis-van Creveld syndrome More Details (EvC) or Chondroectodermal dysplasia is a disease complex, where all the three embryonic layers appear to be involved. [1] This disorder was first described in the literature by Ellis and van Creveld. [2],[3] The pattern of inheritance was shown to be autosomal recessive by Nora and Fraser. [3] Association of paternal consanguinity has been found to be in 30% of cases. [4] Birth prevalence of EvC has been estimated to be 7 per 1,000,000 population. There are more than 300 cases of EvC reported into the literature. [4] About 50-60% of cases have been reported with congenital cardiac malformations. [5],[6] In the following paragraphs, we report a case of EvC in a 12-year-old female child without congenital cardiac abnormalities.


   Case Report Top


A 12-year-old Indian female patient presented to our out-patient department with a complaint of irregularly erupted front teeth. History revealed that Patient's parents had a consanguineous marriage. Patient was the second child and her birth was at full-term normal delivery, with birth weight of 2.8 kg. Her elder sibling had no developmental malformations. History revealed presence of lower front 2 teeth erupted during first month after birth and had not exfoliated since then.

On general physical examination, patient had a short stature (107 cm in height). There was an increased ratio of upper and lower segment, i.e. 1.16 [7] [Figure 1] and [Table 1]. Extremities were plump and shortened from trunk to phalanges (acromelic shortening). Postaxial polydactyly of both hands and right foot was present [Figure 2] and [Figure 3]. Lower limbs were deformed with outward bending of knees (Genuvalgum) [Figure 1]. Middle phalanges of upper limbs were broad and short [Figure 2]. Hair were thin and sparse. Nails were hypoplastic, thin, and spoon shaped. Skin was normal with no alteration in sweating. Patient had a normal mental status (Binet IQ test). [8] On intraoral examination labial mucosa was fused with alveolar mucosa, resulting in the absence of mucolabial sulcus. All teeth were malformed and often showing enamel hypoplasia [Figure 4]. Neonatal teeth, lower central incisors (71 and 81), were grade III mobile.

The radiographic features of complete skeletal survey were as follows [Figure 5],[Figure 6],[Figure 7],[Figure 8],[Figure 9]:

  • Forearm and leg short compared to arm and thigh, acro-mesometric extremities
  • Shortening and thickening of bones of upper and lower limbs
  • Shortening is more pronounced in radius and ulna than the humerus, likewise more in the tibia and fibula than the femur
  • Hypoplasia of upper lateral tibial epiphysis with knock knee
  • Thickening of proximal end of ulna and distal end of radius
  • Dislocation of elbow joints with dislocation of superior radio-ulnar joint
  • Postaxial polydactyly of both hands and right foot, with fused metacarpals of fifth and sixth digit
  • Malformed carpels, fusion of capitate and hamate, and presence of extra carpal bones on both hands
  • Hypoplastic lateral ends of clavicle with increased distance at acromio-clavicular joint.
  • Narrow thorax


Dental findings [Figure 10]:

  • Teeth present [according to FDI system]: 11, 12, 13, 14, 15, 16, 17, 21, 22, 23, 24, 25, 26, 27, 71, 33, 34, 35, 36, 37, 38, 81, 83, 43, 44, 45, 46, 47, 48
  • Malformed 11, 12, 21, and 22
  • Generalized hypoplastic teeth


No cardiac abnormality was noted on Echocardiography and ECG. Chromosomal typing of patient's blood revealed normal set of autosomal and sex chromosomes. Hence considering the clinical and radiographic features and comparing them with the literature, we arrived at a final diagnosis of EvC syndrome.

We later referred the patient to an orthopedic surgeon, who corrected her deformed legs, and the patient is currently under follow-up. Patient is planned for orthodontic treatment along with recontouring of shape of the teeth. The grade III mobile lower central incisors will be extracted and a prosthetic rehabilitation of the missing lower teeth will be done.


   Discussion Top


Ellis-van Creveld syndrome is an autosomal recessive disorder resulting from mutations in a novel gene, EVC (MIM22550) in these patients, Ruiz-Perez et al . Recently, it has been reported that mutations also in EVC2 can cause the condition. These two genes lie in a head-to-head configuration that is conserved from fish to man. [9]

EvC consists of following tetrad of principal features: [2]

  • Bilateral manual postaxial polydactyly
  • Chondrodysplasia of long bones resulting in acromelic dwarfism
  • Hydroitic ectodermal dysplasia affecting prinicipally the nails, teeth, and hair
  • Congenital cardiac maloformations: most demonstrating single atrium and endocardial fusion defect


The constant intraoral findings are hypoplasia of deciduous and permanent teeth, with defective excessively friable enamel. [6] The other oral manifestations include submucous clefts or notching of the maxillary and mandibular alveolar processes, continuous or broad labial frenula, dystrophic filtrum, hypodontia, teeth of abnormal form, and malocclusion. [10] Presence of natal teeth have been reported in 25-30% of cases. [2],[10],[11]

On a skeletal survey following findings can be expected: [10]

  • Acromesomelia (relative shortening of the distal and middle segment of the limbs)
  • Polydactyly (ulnar side)
  • Multiple varieties of carpal fusion
  • Small iliac crests and sciatic notches
  • Valgus deformity of knee
  • Fibula disproportionately smaller than tibia
  • Thorax (short ribs, narrow)


Dental care in childhood includes prevention of caries with dietary counseling, plaque control, and oral hygiene instruction can be advised. Crown or composite build-ups for microdonts can be fabricated. Partial dentures can be placed to maintain space and improve mastication, esthetics, and speech because of congenitally missing teeth. Malocclusion can be corrected with Orthodontic treatment. Dental care during adulthood can be done with implants and prosthetic rehabilitation, to replace congenitally missing teeth. [11]

The endearing factor of EvC is that sound mind resides in a crippled body. These patients require special care, as their social and mental development may be hindered by physical disability. Hence, it is the duty of the clinician to appraise the parents about the situation regarding the social, psychological, and dental treatment needs of these patients.

 
   References Top

1.Varela M, Ramos C. Chondroectodermal dysplasia (Ellis-van Creveld syndrome): A case report. Eur J Ortho 1996;18:313-8.  Back to cited text no. 1    
2.Hunter ML, Roberts GJ. Oral and dental anamolies in Ellis-van Creveld syndrome (Chondroectodermal dysplasia) report of a case. Int J Paediatr Dent 1998;8:153-7.  Back to cited text no. 2    
3.Nora JJ, Fraser FC. Medical Genetics: Principles and practice. p. 211-2.  Back to cited text no. 3    
4.Atasu M, Biren S. Ellis-van Creveld syndrome: Dental, clinical, genetic and dermatoglyphic findings of a case. J Clin Paediatr Dent 2000;24:141-5.  Back to cited text no. 4    
5.Eswar N. Chondroectodermal dysplasia: A case report. J Indian Soc Pedod Dent 2001;19:103-6.  Back to cited text no. 5    
6.Genetics and Dental Health. Proceedings of an international symposium held at "The National Institute of Health," Bethseda, MD: April 4-6, 1961.  Back to cited text no. 6    
7.Behrman RE, Kliegman RE, Jenson HB. Growth and development. Nelson textbook of pediatrics, 17 th ed. New Delhi, India: Saunders - an imprint of Elsevier; 2004. p. 31-66.  Back to cited text no. 7    
8.Kolb LC. Behavioral disorders of childhood and adolescence. Kolb medical clinical Psychiatry. Philadelphia: W. B. Saunders Company; 1977. p. 692-3.  Back to cited text no. 8    
9.Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, et al. Mutations in two nonhomologous genes in a head-to-head configuaration cause Ellis-van Creveld syndrome. Am J Hum Genet 2003;72:728-72.  Back to cited text no. 9    
10.Jones KL. Chondroectodermal dysplasia. In: Smith's Recognizable Patterns of Human Malformation. 5 th ed. WB Saunders Co; 1997. p. 374-5.   Back to cited text no. 10    
11.Chen H, Laufer-Cahana A. Ellis-van Creveld syndrome. eMedicine. Available from: http://www.EVC\eMedicine. Ellis-van Creveld Syndrome Article by Harold Chen, MD, MS, FAAP, FACMG.htm, 24/4/2006.  Back to cited text no. 11    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]
 
 
    Tables

  [Table 1]


This article has been cited by
1 Ellis-van Creveld
Jayaraj, D., Maheswaran, T., Suresh, R., Ganapathy, N.
Journal of Pharmacy and Bioallied Science. 2012; 4(2): S153-S156
[Pubmed]
2 Ellis van Creveld syndrome - A report of two siblings
Hegde, K., Puthran, R.M., Nair, G., Nair, P.P.
BMJ Case Reports. 2011;
[Pubmed]



 

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